inherited metabolic disorder with a frequency of approx. 1:20,000. It is caused by a defect in the enzyme aldolase B, which converts fructose-1-phosphate to glycerol aldehyde and dihydroxyacetone phosphate [...] phosphate in the liver. When fructose-containing foods or medications are ingested, fructose-1-phosphate accumulates and damages the liver, kidneys and intestines. Hypoglycaemia with symptoms such as nausea [...] nutritional advice, parents are not advised to calculate fructose intake. Nevertheless, a list with 1 g of fructose in vegetables, bread, potatoes and cereals is helpful in recognizing large and small fructose
E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin. Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. [...] Infections - Original Article: Human Borna disease virus 1 (BoDV-1) encephalitis cases in the north and east of Germany. Emerg Microbes Infect. 2021 Nov 16:1-19. doi: 10.1080/22221751.2021.2007737. Online ahead [...] 051-1. Epub 2021 Jul 13. PMID: 34255103 Fink L, Jonigk D. [The updated S2k guideline for the diagnosis of idiopathic pulmonary fibrosis : Essential aspects for pathology]. Pathologe. 2021 Feb;42(1):40-47
and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. J Inherit Metab Dis. 2025 Jan;48(1):e12824. doi: 10.1002/jimd.12824. Review. PubMed [...] Hegert S, Janzen N, Hohenfellner K. Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria. Kidney Int Rep. 2025 Jan;10(1):177-183. doi: 10.1016/j.ekir.2024.10.006. eCollection 2025 Jan. PubMed [...] precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. Mol Genet Metab. 2024 May;142(1):108436. doi: 10.1016/j.ymgme.2024.108436. Epub 2024 Mar 22. PubMed PMID: 38552449
tal stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis, Genes Dev. 2010 Aug 1;24(15):1659-72 Stankov MV1, El Khatib M1, Thakur BK, Heitmann K , Panayotova [...] D, Li Z, Orkin SH, Behrens GMN1, Klusmann JH1. Histone deacetylase inhibitors induce apoptosis in myeloid leukemia by suppressing autophagy. Leukemia 2014;28(3):577-88. 1contributed equally. Herbold W [...] Van Veldhoven PP, Gräler MH. S1P-lyase independent clearance of extracellular sphingosine 1-phosphate after dephosphorylation and cellular uptake. J Cell Biochem.2008 Jun 1;104(3):756-7 Bode C, Sensken
1.2 Million Euro for the INSTINCT project Together with an international consortium from Portugal, Italy, the Netherlands and Canada, Professor Ulrich Martin, head of LEBAO, has been awarded a grant of [...] of 1.2 Million Euro by the E-Rare ERA-NET programme for a stem cell based project targeting rare diseases. The INSTINCT project will investigate the use of induced pluripotent stem cells to identify novel
Treatment especially for patients with inflammatory neurological diseases. For example: chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), multiple sclerosis, myositis, myasthenia gravis.